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BRCA Gene Testing

The BRCA 1 and BRCA 2 genes (aka Breast Cancer Susceptibility Genes 1 and 2) have been the focus of significant debate over the last several years.

Many scientists believe that the presence of a mutated BRCA 1 or BRCA 2 gene is an indication of your likelihood of developing Breast Cancer. But is it…or isn’t it? And can the test results do more harm than good?   Let’s begin by defining what the BRCA genes actually are.



Genes are the building blocks of heredity. Genes are segments of DNA, the molecules that dictate the development and function of all living organisms. There are approximately 30,000 genes in the human genome. We humans have two copies of each gene – one from Mom and one from Dad. To date, scientists have identified nearly 26,000 of them. Among those thus far identified are the BRCA 1 and BRCA 2 genes, and everybody has them – everybody.



Mutation may be present in either, both, or neither of these genes, and the mutation, like the genes themselves, are inherited from your parents.  (a mutated  BRCA 1 or BRCA 2 gene is DOMINENT over a healthy BRCA 1 or BRCA 2 gene, so if you inherited a healthy BRCA gene from your mother but a mutated BRCA gene from your father, the mutated BRCA gene rules!)  BRCA gene mutation is rare. Only about .2 percent (2 tenths of one percent) of Americans carry a BRCA 1 or BRCA 2 mutation.



The BRCA genes belong to a class of human genes known as ‘Tumor Suppressors’ that, when working properly, produce specific proteins that suppress abnormal cell growth. ‘Abnormal’ cell growth is at the root of all cancers. When the BRCA genes are healthy, they suppress the growth of certain cancerous cells – Breast Cancer and Ovarian Cancer cells in particular.   When these genes are not functioning properly, when they have mutated, their tumor suppressing abilities are turned off.



After decades of research, science now believes that there is a direct correlation between mutated BRCA 1 and 2 genes and the development of Breast Cancer. To what extent are they connected? That is the question.



According to the National Cancer Institute, only ten (10) percent of Breast Cancer patients carry a mutated BRCA gene, which, of course, means that ninety (90) percent of Breast Cancer Warriors do NOT carry a BRCA mutation.   That's worth repeating -- 90 percent of Breast Cancer patients have perfectly healthy BRCA genes.    Translation: Ninety (90) percent of Breast Cancer cases are not caused by a mutation of the BRCA 1 or BRCA 2 genes.



However, there is now significant research indicating that a woman who does carry a mutated BRCA gene has a higher than average risk of developing Breast Cancer at some point in her life. The precise increased risk varies depending upon whose research you’re reading, but the commonly accepted percentage ranges from twenty (20) to eighty-five (85) percent, depending upon age.



The literature suggests the following:

Twenty (20) out of every one hundred (100) women who carry a mutated BRCA gene will develop Breast Cancer by the time they are forty (40) years old. Fifty-one (51) out of one hundred (100) women with a mutated BRCA gene will develop Breast Cancer by the time they are fifty (50) years old and eighty-five (85) out of one hundred (100) women with the mutation will be diagnosed with Breast Cancer by the time they reach the age of sixty (60).



So, should you be tested? The answer to that question is not as simple as the question would lead you to believe. First, let’s examine the known hereditary risks.



Research has shown that Ashkenazi Jewish women (Jewish women of Eastern European, German, Polish or Russian extraction) have a higher incidence of carrying a BRCA gene mutation than do women of other backgrounds. According to the research, one in forty Ashkenazi Jewish women (2.65 percent) carry a BRCA 1 or BRCA 2 gene mutation (compared to one in five hundred -- two tenths of one percent -- of the general population).  However that research also indicates that only seven (7) percent of Breast Cancer in Ashkenazi women is due to BRCA mutations.  The vast majority of their Breast Cancer is not due to mutated BRCA genes.   To read more about this subject, please visit The Breast Cancer Resource Directory.



Since the early 1990’s, when the BRCA/Breast Cancer link was first observed, many women of all backgrounds have undergone the BRCA gene test.  The test itself is simple – it’s a blood test…but that’s where ‘simple’ ends.



It should come as no surprise to anyone that health insurance companies are not in the health insurance business for their health – they’re in it to make money. The announcement that a gene had been discovered that appeared to be linked to Breast Cancer was greeted with applause by several insurance companies -- n ot because the news heralded the possibility of a cure, but because the announcement gave insurance companies a golden opportunity to minimize their exposure to potential health care expenses.


Picture this:


A corporate Board Room -- a long, polished conference table, at which a gaggle of corporate executives, “Number Crunchers” and decision makers are deep in conversation.  As they contemplate the possible implications of this new piece of health-related news, one of them says: “If someone has the mutated BRCA 1 or BRCA 2 gene, they have a chance of developing Breast Cancer, so we should exclude coverage to anyone who has that gene mutation”.



Suddenly ‘Number Cruncher’ number two says: “Or, at least, we should make their insurance premiums high enough to cover us in case they do eventually develop Breast Cancer, right?”. And, of course, ‘Number Cruncher’ number three says: “Right!”



The result:

Countless health insurance companies quietly began classifying the presence of a mutated BRCA 1 or BRCA 2 gene as a ‘pre-existing condition’ and used that unspoken designation as license to charge outrageous premiums or to deny coverage all together. But wait....there's more...


Countless companies who routinely examine a prospective employee’s medical history prior to hiring, are now deciding not to hire people who carry the mutated gene. (and we say ‘countless’ companies because hiring decisions such as these are never made openly. That company you interviewed with a few months ago may have told you that they chose someone other than you because ‘the company was looking for someone who spoke Portuguese’, but the real reason could have been that the company discovered that you had a mutated BRCA 1 gene.)



You won’t find documentation to prove that companies are doing this, and yes it is against the law, but because the nature of capitalism is to make money (not lose money), believing that this sort of thing is not happening is naïve. Your medical test results become a part of your medical record, and your medical records are open to scrutiny by life insurance companies; health insurance providers, the military, and corporate America.



Knowledge is power and this particular type of knowledge and power can be used by you and against you. Sad, but true.



The knowledge that you don’t carry a BRCA gene mutation does not give you any information that is useful because, as we’ve seen, ninety (90) percent of Breast Cancer patients do not carry the mutation. On the other hand, discovering that you do carry a BRCA mutation can help you make decisions about your health care.



Of course, knowing that you carry a BRCA gene mutation can also cause you tremendous anxiety.  What will you do if you learn that you have the mutation? Will you consider prophylactic (preventative) Mastectomy? Will you change your lifestyle?…or will you just lose sleep, and worry yourself into illness? And, just for the record, the BRCA gene test is expensive (a full scale analysis of a blood sample can cost more than two thousand dollars) and not all insurance companies pay for it.



And here's something else worthy of consideration:

The sheer number of people who have been surveyed in regard to BRCA genes is relatively small, meaning that the risk percentages most commonly published are the result of studies that have involved relatively few people.


As any scientist will tell you, the larger the sample size (survey size), the more credible the research results tend to be.  Therefore, while we read the studies and note the statistics, we take the results with a grain (or twelve) of salt.


There is, however, one thing of which we are quite certain:  when the subject is the link between Breast Cancer and BRCA genes, there is much more to be learned than has been learned to date.



For more information on the subject of BRCA Gene Testing, we recommend that you visit the following web sites:



The National Human Genome Research Institute -- the National Human Genome Research Institute provides extensive information on gene testing in general and BRCA gene testing in particular.



MD Anderson Cancer Center: this site contains a News Release that was published in March, 2009, and discusses a BRCA survey done by MD Anderson between 1997 and 2005.



Sloane Kettering Cancer Center:  Memorial Sloane Kettering, one of America's leading Cancer Centers, has done extensive research into the subject of the BRCA 1 and 2 Gene and we recommend that you visit their site and read what they have to say on the subject.



To read another in-depth article on the subject of BRCA gene testing and the BRCA 1 and BRCA 2 genes, click on this link.    http://www.answers.com/topic/brca#ixzz1BzSsN8I1



Bottom Line:

If you are trying to decide whether or not to have a BRCA gene test, we urge you to make the decision only after extensive research, serious deliberation, and in-depth discussions with qualified medical professionals and bona fide genetics counselors.


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Mind Matters

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Dear Dr. Siegel  – I have BC…and my oncologist says I need radiation.  I don’t know why, but…there’s a voice in my head telling me not to do it.  Should I listen to the voice?  Is it possible that some inner part of me knows something that the doctor doesn’t know?

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From Cancer Patient to Respant

By:  Bernie Siegel, MD

Unfortunately doctors and health professionals, in general, do not study success. We are far more likely to consider an unexpected recovery to be due to the treatment or a spontaneous remission. However, I have learned from my experience with patients and by asking them, “Why didn’t you die when you were supposed to?” that they always had a story to tell.